Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
THROMBOCYTHEMIA 2 		disease Disease or Syndrome 1 4 0.600 strong 1.000 5 4 2004 2015
CUI: C0272282
Disease: Thrombocytopenia, cyclic
Thrombocytopenia, cyclic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0339965
Disease: Hemorrhagic pneumonia
Hemorrhagic pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
THROMBOCYTHEMIA 2, SOMATIC 		disease Finding 1 1 0.100 None 0 1
CUI: C0272293
Disease: Chronic idiopathic thrombocytopenic purpura
Chronic idiopathic thrombocytopenic purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C2678311
Disease: Thrombocytopenia 3
Thrombocytopenia 3 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2007 2007
CUI: C4273671
Disease: Inherited predisposition to essential thrombocythemia
Inherited predisposition to essential thrombocythemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.020 None 1.000 2 2004 2009
CUI: C3805233
Disease: Post essential thrombocythaemia myelofibrosis
Post essential thrombocythaemia myelofibrosis 		disease Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C1858312
Disease: Megakaryocytopenia
Megakaryocytopenia 		phenotype Finding 3 0.100 None 0
CUI: C1838608
Disease: Radial aplasia
Radial aplasia 		disease Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
THROMBOCYTHEMIA 1 		disease Disease or Syndrome 5 4 0.100 None 1.000 4 1 2008 2010
CUI: C4552543
Disease: TAFRO syndrome
TAFRO syndrome 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C0239574
Disease: Low grade fever
Low grade fever 		phenotype Pathological Conditions, Signs and Symptoms Finding 5 1 0.100 None 0
CUI: C2826330
Disease: Refractory anemia with ring sideroblasts associated with marked thrombocytosis
Refractory anemia with ring sideroblasts associated with marked thrombocytosis 		disease Hemic and Lymphatic Diseases Neoplastic Process 6 1 0.020 None 1.000 2 2009 2013
CUI: C0016199
Disease: Flank Pain
Flank Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 0.100 None 0
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 7 25 1.000 strong 1.000 34 23 1994 2018
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 5 0.390 None 1.000 9 4 2000 2012
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.110 None 1.000 1 2008 2008
CUI: C4025187
Disease: Increased megakaryocyte count
Increased megakaryocyte count 		phenotype Finding 7 0.100 None 0
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		phenotype Finding 7 0.100 None 0
CUI: C0021313
Disease: Infection of kidney
Infection of kidney 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0025167
Disease: Megakaryocytic hyperplasia
Megakaryocytic hyperplasia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 1 0.010 None 1.000 1 2016 2016
CUI: C0334674
Disease: Acute panmyelosis with myelofibrosis
Acute panmyelosis with myelofibrosis 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 0.010 None 1.000 1 2015 2015
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.010 None 1.000 1 2017 2017
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding 		phenotype Finding 9 1 0.100 None 0